title: Congenital disorders of glycosylation (CDG): it's (nearly) all in it!
abstract: Congenital disorders of glycosylation (CDG) is a booming class of metabolic diseases. Its number has increased nearly fourfold (to 45) since 2003, the year of the Komrower lecture, entitled 'Congenital disorders of glycosylation CDG): It's all in it!'. This paper presents an overview of recently discovered CDG and CDG phenotypes, of a diagnostic approach, of (the lack of) treatment, of CDG genetics, of a novel CDG nomenclature and classification, and of some future directions in the CDG field.
authors.affiliation: Universitair Ziekenhuis Gasthuisberg, Herestraat 49, 3000, Leuven, Belgium. jaak.jaeken@uzleuven.be
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D002239:Carbohydrate Metabolism, Inborn Errors / Q000145:classification* / Q000175:diagnosis; D002240:Carbohydrate Sequence; D018981:Congenital Disorders of Glycosylation / Q000145:classification* / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D003937:Diagnosis, Differential; D006031:Glycosylation; D006801:Humans; D008954:Models, Biological; D009626:Terminology as Topic